Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other.

Klippel-Feil syndrome (KFS) is a heterogeneous entity, characterized by specific congenital anomalies of segmentation of the cervical spine. We report a case of KFS plus atretic meningocele in one identical twin and anencephaly in the other. These identical twins were both male with no chromosome defect. One of them had anencephaly diagnosed at the gestational age of 17 weeks and died soon after birth, whereas the co-twin had KFS with multiple congenital anomalies including short neck with low hairline, occipital atretic meningocele, butterfly vertebrae, hemivertebrae, cervico-thoracic scoliosis, left thumb preaxial polydactyly, and right undescended testis. He received rehabilitation during infancy and could walk at the age of 15 months. Both of these infants had preaxial polydactyly, which is an uncommon anomaly associated with KFS. In conclusion, iniencephaly and anencephaly are probably the extreme manifestations of KFS rather than different dysraphisms. Prompt clinical suspicion with early diagnostic imaging for spine lesions and occult opening of neural tube is mandatory for further intervention and rehabilitation.     

Laryngeal damage due to an unexpectedly large and inappropriately designed cuffed pediatric tracheal tube in a 13-month-old child

PURPOSE: To present a case of laryngeal damage in an infant caused by a too large and inappropriately designed cuffed tracheal tube. CLINICAL FEATURES: A 13-month-old child undergoing cardiac surgery was intubated with an uncuffed endotracheal tube with an internal diameter (ID) of 4.0 mm. Because of an important air leak around the tracheal tube during mechanical ventilation, a cuffed endotracheal tube ID 4.0 mm was inserted. The air leak with the tube cuff not inflated was acceptable at 25 cm H2O airway pressure. After extubation on the third postoperative day, the patient showed increasing stridor and respiratory deterioration. Fibreoptic laryngoscopy of the spontaneously breathing patient showed a large intra-laryngeal web. After surgical removal of the web, the child rapidly recovered and was discharged from the hospital on the 12th postoperative day. Inspection of the 4.0 mm (ID) cuffed tracheal tube revealed a cuff positioned inappropriately high and an increase of 0.7 mm in outer tube diameter compared to the 4.0 mm (ID) uncuffed tracheal tube from the same manufacturer. The tube cuff is likely to be situated within the larynx when placed in accordance to insertion depth formulas or radiological criteria, as used for uncuffed tracheal tubes in children. CONCLUSION: The larger than expected tracheal tube with its intra-laryngeal cuff position in a 13-month-old child likely caused mucosal damage and an inflammatory reaction within the larynx resulting in granulation tissue formation and fibrous healing around the tracheal tube.     

End-of-life Models and Emergency Department Care

Many people die in emergency departments (EDs) across the United States from sudden illnesses or injuries, an exacerbation of a chronic disease, or a terminal illness. Frequently, patients and families come to the ED seeking lifesaving or life-prolonging treatment. In addition, the ED is a place of transition-patients usually are transferred to an inpatient unit, transferred to another hospital, or discharged home. Rarely are patients supposed to remain in the ED. Currently, there is an increasing amount of literature related to end-of-life care. However, these end-of-life care models are based on chronic disease trajectories and have difficulty accommodating sudden-death trajectories common in the ED. There is very little information about end-of-life care in the ED. This article explores ED culture and characteristics, and examines the applicability of current end-of-life care models.     

Effect of selected fluorinated drugs in a "ringing" gel on rheological behaviour and skin permeation.

The purpose of the present study was to investigate the influence of different drugs exhibiting different solubility on the viscoelastic properties and on the skin diffusion profile of a ringing gel. In a preliminary rheology study with the placebo gel predominating elastic properties were confirmed and a temperature influence was indicated. Fluconazole, fludrocortisone-acetate, flumethasone-pivalate, flutamide and flufenamic-acid each 1% (w/w) were incorporated into the preparation and oscillatory measurements were performed at temperatures of 25, 28, 32 and 37 degrees C. In all drug containing formulations a high elastic G' value predominated the viscous G' value. The highest G' value could be obtained with the incorporated flumethasone-pivalate. Additionally in almost all cases the G' values decreased with increasing temperature compared to the placebo gel. Additionally in vitro standard diffusion experiments using Franz-type cells and porcine skin were performed. Following rank order of the cumulative drug release after 48 h was obtained: fluconazole>flufenamic-acid>flumethasone-pivalate>flutamide>fludrocortisone-acetate. Furthermore an excellent chemical stability of all incorporated drugs was confirmed over 10 weeks.     

What factors influence survival in patients with unresected synchronous liver metastases after resection of colorectal cancer?

OBJECTIVE: The aim of this study was to determine whether the survival of patients with untreated synchronous liver metastases after resection of a colorectal cancer was associated with any features of the primary tumour. METHODS: Information for 398 consecutive patients with unresected liver metastases in the period 1971-2001 was examined by multivariate survival analysis. RESULTS: Of 19 clinical and pathological variables considered, survival was independently associated only with residual tumour in a line of resection (hazard ratio (HR) 1.95), venous invasion (HR 1.87), right colonic tumour (HR 1.68), lymph node metastasis (HR 1.54), and extra-hepatic metastasis (HR 1.16); 8.3% of patients had none of these adverse features. Their 2-year overall survival rate was 39.2%, compared with only 16.5% (P < 0.001) in those with one or more adverse features. CONCLUSIONS: These findings may assist in selecting patients most likely to benefit from treatment of hepatic metastases and in counselling patients and their relatives.     

Dehiscent temporomandibular joint

The appearance of an acute effusion in a well-pneumatized temporal bone directs attention to the nasopharynx and skull base. Two patients are described in whom dehiscence of the temporomandibular joint allowed herniation of the contents of the joint posteromedically, where they obstructed the middle ear entrance of the eustachian tube, the protympanum. This is, to the authors' knowledge, a previously unreported cause of an acute middle ear and mastoid effusion.     

Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis

The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction—restriction enzyme analysis, the heteroplasmic nt3243 A→G mutation in mtDNA of peripheral blood leucocytes and a muscle sample was demonstrated. The oligosymptomatic relatives were then screened by this method and the degree of heteroplasmy was analysed. This appears to be the first report of a MELAS family in Hong Kong with this described mutation. Molecular genetic techniques are advantageous in the diagnosis of MELAS.     

新生儿骨矿质含量及影响因素的研究

应用双光子及单光子吸收测定技术，检测了９２名出生３ｄ内的新生儿骨矿质含量，其中巨大儿３０名，正常体重儿３２名，低出生体重儿３０名，其孕龄分别是４０．１±０．７、３９．１±１．５和３７．４±１．２孕周。结果表明，巨大儿、正常体重儿、低出生体重儿的全身骨矿质含量分别是１０１．６±２８．８、８５．２±１９．８、５９．９±２７．２ｇ／ｃｍ２，巨大儿骨矿质含量最高，正常体重儿次之，低出生体重儿最低，差异有显著性（Ｐ＜０．０１）。颅骨、肱骨、股骨的骨矿质含量与全身的骨矿质含量有高度的相关性，相关系数分别是０．９４３、０．８７９和０．７４５（Ｐ＜０．０１）。全身的骨矿质含量与出生体重、孕龄及头围有高度相关性，相关系数分别是０．７５５、０．５９６和０．５５６（Ｐ＜０．０１）。提示颅骨、肱骨及股骨的任一部位均可代表全身的骨矿质含量，肱骨是确定全身骨矿质含量较好的部位，新生儿骨矿质含量受出生体重、孕龄及头围的影响较大。     

Immunopathologic study of Vogt-Koyanagi-Harada syndrome

We studied an enucleated eye from a patient with a 30-year history of Vogt-Koyanagi-Harada syndrome using both conventional and immunohistochemical techniques. Clinically, the eye was in the end stage of Vogt-Koyanagi-Harada syndrome, and was characterized by the absence of inflammation, large areas of chorioretinal scarring, and pigmentary changes. Histopathologic examination showed marked retinal gliosis, extensive chorioretinal adhesion and scar formation, migration of pigment into the retina, and severe retinal pigment epithelial changes. However, foci of mild to moderate nongranulomatous inflammation of the uvea were observed. These foci contained infiltrating cells that were mainly T lymphocytes with B lymphocyte aggregates at the center. Scattered macrophages were also noted in the uvea and retina. These findings suggest that both the cell-mediated and humoral immune arms may play roles in the pathogenesis of Vogt-Koyanagi-Harada syndrome.